title: Two Japanese siblings with Bloom syndrome gene mutation and B-cell lymphoma.
abstract: Bloom syndrome (BS) is a rare autosomal recessive genetic disorder characterized by lupus-like erythematous telangiectasia of the face, sun sensitivity, infertility and stunted growth. Upper respiratory tract and gastrointestinal infections are commonly associated with the decreased immunoglobulin levels found in BS patients. Chromosomal abnormalities are hallmarks of the disorder, and high frequencies of sister chromatid exchanges and quadriradial configurations in lymphocytes and fibroblasts are virtually diagnostic. Recently, the causative gene for BS (BLM) has been identified. We encountered and defined a family with a nonsense mutation in BLM. The brother and sister were homozygous for the mutation and both developed B-cell malignant lymphoma in their twenties. These findings indicate the importance of prenatal diagnosis and the detection of BS carriers based on molecular genetic analysis.
authors.affiliation: Department of Pediatrics, Gifu University School of Medicine, Tukasa-mati, Japan. hideo@cc.gifu-u.ac.jp
authors.forename: H
authors.initials: H
authors.lastname: Kaneko
authors.forename: R
authors.initials: R
authors.lastname: Inoue
authors.forename: T
authors.initials: T
authors.lastname: Fukao
authors.forename: K
authors.initials: K
authors.lastname: Kasahara
authors.forename: H
authors.initials: H
authors.lastname: Tashita
authors.forename: T
authors.initials: T
authors.lastname: Teramoto
authors.forename: N
authors.initials: N
authors.lastname: Kondo
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D014408:Biomarkers, Tumor / Q000235:genetics*; D001816:Bloom Syndrome / Q000097:blood / Q000150:complications / Q000235:genetics*; D004265:DNA Helicases / Q000235:genetics*; D005260:Female; D006801:Humans; D007564:Japan; D016393:Lymphoma, B-Cell / Q000150:complications / Q000235:genetics*; D008297:Male; D009363:Neoplasm Proteins / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D053484:RecQ Helicases; D017422:Sequence Analysis, DNA
chemical_list: D014408:Biomarkers, Tumor; D009363:Neoplasm Proteins; D000251:Adenosine Triphosphatases; C097151:Bloom syndrome protein; D004265:DNA Helicases; D053484:RecQ Helicases